Meet our RARE Revolutionaries

- CHARITIES -

​ The Cambridge Rare Disease Network is a newly established charity working to build a regional community of people in Cambridgeshire to address the unmet needs of rare disease patients, their families and the professionals who work with them.Registered Charity Number: 1166365

Dravet Syndrome UK is an independent UK charity dedicated to improving the lives of children and adults living with Dravet Syndrome and other related genetic sodium channel epilepsies through medical research, education and awareness and support.Registered Charity Number: 1128289

This medics4rarediseases group aims to bring medical students and medics into contact with both patients and clinicians in order to educate on rare diseases. By educating future doctors we can increase early recognition and diagnosis of rare diseases. Identifying and understanding the biological cause of extreme inherited conditions is helping in the research of treatment for common diseases too – a process known as “translational medicine”.

Teddington Trust is a registered charity that offers support and guidance to those affected by the rare genetic condition of xeroderma pigmentosum.Teddington Trust are based in the UK, however, their reach is global, providing a dedicated patient support service. They create, fund and implement a range of health, education and well-being projects aimed at improving the lives of those affected by the condition.Registered Charity Number: SC045465

Pitt Hopkins UK are a newly registered charity. Their aims are to raise awareness of Pitt-Hopkins Syndrome (PTHS ), particularly among the health professionals, and to support and advocate for families with a child with PTHS, while delivering the latest information. Pitt Hopkins UK also hope to fund future research in key areas which impact quality of life, such as, breathing anomalies that many of the children and adults exhibit. Registered Charity Number: 1167153

The Muscle Help Foundation is a small, niche, multi-award winning family charity delivering transformational experiences in the UK called ‘Muscle Dreams,’ for children and young people (aged 8-28 yrs) with the muscle wasting disease, Muscular Dystrophy (MD) and allied neuromuscular conditions. Find out more about their work, impact, their #powerof657 campaign and the difference you can make in helping them change lives and give hope. Registered Charity No: 1096716

Findacure is a UK charity building the rare disease community to drive research and develop treatments. We work to: Empower patient groups to build their patient community, develop as a charity, and drive treatment research and development; and Promote collaborations between rare disease stakeholders to facilitate treatment development for all. Findacure follows in the footsteps of William Bateson, the father of modern genetics, who reminded us that we should 'treasure our exceptions'.Registered Charity No: 1149646

Ring20 Research and Support UK are a non-profit making charitable organisation operating from the UK but who extend their support to families around the world, who are affected by Ring Chromosomes 20 Syndrome. Ring20 raise funds for future research studies by way of member fundraising and seeking out opportunities for research grants and/or corporate sponsorship.They aim to represent r(20) patients and their families as a patient cohort to aid vital research, which may lead to improved quality of life and improved outcomes for those living with, or affected by r(20). Registered Charity No: 1165651

The Cure & Action for Tay-Sachs (CATS) Foundation is the only charity based in the United Kingdom (UK) dedicated to supporting families affected by Tay-Sachs and Sandhoff disease. The CATS Foundation provides vital services to families affected by these devastating diseases, which includes distributing information, providing vital equipment, respite trips, funeral funding and a support network for families and carers. The CATS Foundation are the nominated patient organisation for a ground breaking European gene therapy trial for Tay-Sachs and Sandhoff which is hoped may provide a viable treatment from these diseases.Registered Charity No: 1144543

​Guillain-Barré syndrome is a rare autoimmune condition affecting the peripheral nervous system, in which the nerves in the arms and legs become inflamed and stop working, usually leading to temporary paralysis. Around 80% of those with GBS will make a good recovery, but between 5-10% of people will die and the other 10-15% may be left with severe mobility or dexterity issues. GAIN exists to help people understand and manage GBS, CIDP and the associated variants, promote and facilitate both clinical and non-clinical research into the conditions and raise awareness of the charity and conditions. Registered Charity No. 1154843 & SCO39900

Inclusive Skating has created local family based clubs for disabled children and their families to skate and receive crucial respite care and support. We work with disabled skaters at over 50 existing clubs in Great Britain to help them develop their skating.The inclusive skating movement is developing globally and we run annual events that we hope will lead to European and World Inclusive Skating Championships and the inclusion of ice skating in the Paralympics. Registered Charity No SC042584

Childhood Tumour Trust is a charity that supports children, young people and their families affected by Neurofibromatosis type 1, by providing camps for children, days out for families and providing an online support group. They are campaigning to raise awareness and earlier diagnosis. Registered Charity number 1165777

The AKU Society is a patient organisation dedicated to supporting patients diagnosed with alkaptonuria (AKU). AKU was the first genetic disease ever discovered. Other names for the disease include Black Bone Disease or black urine disease, as these are common symptoms. Registered Charity No 1101052

Genetic Disorders UK (GDUK) is the national charity with the vision of improving the lives of individuals and families affected by genetic disorders. The organisation provides resources and support directly to those affected, and to the hundreds of disorder-specific charities and patient groups that have been established in the UK. GDUK offers a genetic counselling helpline, an education programme for schools and organises Jeans for Genes Day, a high-profile national initiative to promote awareness of genetic disorders among the general public, and to raise funds for its work. Registered Charity No 1141583

The Rare Disease United Foundation is the nation’s leading rare disease advocacy organisation. RDUF works on the challenges facing rare disease patients both locally and nationally. In five years, RDUF has gone from, the first state-based, non-disease specific non-profit, to the voice of the 60 million people in the United States suffering from the physical, emotional and financial stress of living with a rare disease. RDUF programs target specific issues and approach them with the wisdom, knowledge and passion that comes with living rare.

Ataxia and Me, has a focus on "patients helping patients" to bring benefits to all affected by the rare neurological condition of Ataxia, which affects balance, speech and coordination. Although, the main focus is Ataxia - they also incorporate associated rare disease and movement disorders. The broad scope of this platform gives a more holistic view of the information available to benefit the wider community of people affected by this "life limiting" neurological, invisible condition.

The Alfie Milne Lymphangiomatosis Trust, is the only UK-based patient organisation representing those with lymphangiomatosis or Gorham-Stout disease. Working with other global patient organisations, proceeds are directed towards vital research and building a support network to offer patients and their families hope for the future and a chance to share experiences and gain strength in numbers. Alfie’s Trust aims to help prevent other families experiencing the void encountered at diagnosis, by it’s founding members – Alfie`s parents. Registered Charity No: (SC043165)

ALD Life is a patient support group and registered charity for patients and families with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN), who provide practical support, advice and information to patients and families with Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) and raise awareness and improve public education into both conditions. Registered Charity No. 1106008

The Gauchers Association is a registered charity that seeks to provide information about Gaucher disease and keep families and medical advisers up to date with latest research developments. They aim to encourage the availability of treatment including enzyme replacement therapy, keep families in touch for support and actively promote medical research into Gaucher disease. Registered Charity No. 1095657

Bardet-Biedl Syndrome UK is a voluntarily run charity aimed at protecting the health and promoting the welfare of persons affected by BBS, their families and carers. The charity also aims to advance the education of the medical and educational professions and the general public on the subject of BBS and its implications for the family.Registered Charity No’s: 1027384 and SCO41839

ASSERT is a UK based charity supporting families affected by Angelman Syndrome (AS), a rare neurogenetic disorder causing poor mobility, seizures, little or no speech and poor sleep. ASSERT’s main aims are to support families coming to terms with diagnosis and dealing with the challenges of life with AS; raising awareness of AS among health professionals and the general public and assisting individuals and organisations carrying out research into AS.

Lipodystrophy UK (LDUK) is a charity striving to raise awareness of the ultra-rare condition, lipodystrophy. LDUK supports individuals who are affected by lipodystrophy and advocates for excellent clinical care and scientific research in rare diseases. The charity was established in 2017 by Rebecca Sanders who was diagnosed with lipodystrophy in 2000.

The Albinism Fellowship is a positive and sociable volunteer run registered charity that aims to provide information, advice and support for people with Albinism and their families. Their trustees are all people with Albinism or parents of children with Albinism. They raise awareness of Albinism, arrange opportunities for people to meet and receive support and encourage the sharing of experiences in addition to producing a twice yearly magazine and providing phone support. They organise regional meetings on a regular basis and run a national conference every two years.

- RARE AFFILIATES & MEDIA PARTNERS -

Meet our friends who are doing their bit to support our #RareRevolution